患儿男,3d。因“四肢松软、无力3d”入院。第2胎第2产,胎龄38周,因胎动减少,剖宫产性,出生体重3700g,无产伤窒息,母孕期体健。第1胎出生时窒息、松软、生后1周继发肺炎死亡,父母体健,非近亲结婚。体检:体温、脉搏、血压、头围均正常,外观无畸形、无皮疹、无色素沉着和色素缺失, Children male, 3d. Due to “limbs soft, weak 3d” admission. The second and second births, gestational age 38 weeks, due to reduced fetal movement, cesarean section, birth weight 3700g, no births asphyxia, pregnant women during pregnancy. The first child was born suffocated, soft, 1 week after birth, death of pneumonia, parents healthy, non-relatives get married. Physical examination: body temperature, pulse, blood pressure, head circumference are normal, the appearance of no deformity, no rash, no pigmentation and pigment loss,